Genetics and vision

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Thanks to genetic diagnosis and molecular biology techniques, many previously irreversible vision disorders will become treatable within the next decade

Below we reproduce an article on genetics and vision by Esther Armora that was published in the ‘Health’ section of Spain’s ABC newspaper in September 2013.

Tell me what mutation you have, and I’ll tell you how to treat it

The evolution of retinitis pigmentosa, until now a degenerative and irreversible eye disease with a genetic basis, is no longer tantamount to irreparable vision loss. Thanks to genetic diagnosis and advances in molecular biology techniques, within ten years, specialists will be able to use therapies that can slow down the development of eye disorders that affect one in every 3.500 people. Since January of this year, the Ocular Microsurgery Institute (IMO) in Barcelona has had a new molecular biology laboratory at its premises that aims to promote the genetic studies that it began in 2009 through an agreement with the University of Barcelona (UB). Coordinated by Dr Esther Pomares, head of the Genetics Department, the laboratory offers a genetic diagnosis service for around thirty eye disorders through the molecular analysis of patients and their families, whose eye disorders are genetic and, therefore, hereditary. It is a basic prevention service that enables asymptomatic patients to be detected, as well as affected family members who are likely to develop a specific disorder in the future.

The new laboratory allows us to improve the service that we already provide to patients, which consists of performing genetic tests for hereditary eye diseases, to identify their molecular causes, and complementing clinical diagnosis

According to the geneticist, knowledge of the molecular abnormality enables IMO to provide genetic counselling to families, identifying the disorder’s pattern of inheritance and revealing the likelihood of transmitting it. It also alerts carriers who have not yet developed the disease that it is highly likely that they will suffer from it in the future.

The vital “genetic name of the disease”

Knowing a person’s genetic predisposition to suffering from a certain disease is a major step forward made possible by genetic diagnosis. Furthermore, molecular biology now enables us to delve deeper into this analysis and not only find out which gene is mutated, but also what kind of mutation it is

She adds, “knowing the ‘name of the disease’ (in other words, the gene behind it) is vital in order to be able to design a therapy that can stop the progression of the disease, which is a major breakthrough.” Esther Pomares is cautious about how long it will take for patients to be able to benefit from gene therapy, which will consist of replacing the abnormal gene in the cells of patients themselves.

It is likely that within ten years these techniques will have been validated and incorporated into clinical practice

We will have to wait longer, though, to see the application of other therapies currently being studied, such as cell therapy. “Unlike gene therapy, cell therapy is based on completely replacing the affected cells. This procedure is very complex, and its study is still at the experimental stage,” explains Dr Pomares. IMO Foundation is about to launch a number of ambitious basic research projects that will deepen understanding of the molecular bases of certain diseases and facilitate the application of pioneering gene therapies that, within the next decade, will enable previously incurable diseases, such as most retinal dystrophies, to be treated. The genetic origin of many eye diseases makes them hereditary, such as retinal dystrophies (retinitis pigmentosa and Stargardt’s disease, among others), aniridia, corneal dystrophies and some forms of glaucoma. In total, more than 150 genes are known to be responsible for retinal dystrophies, 50 of which cause retinitis pigmentosa.

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